Phenotypes Associated with This Genotype

Genotype
MGI:2177534

• Allelic Composition: Cftr^tm2Cam/Cftr^tm2Cam
• Genetic Background: involves: 129S/SvEv

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

premature death ( J:27734 )

• mutant mice surviving past weaning age die by 6-8 months of age

postnatal lethality, incomplete penetrance ( J:27734 )

• 35% of homozygous mice are dead by 16 days of age

digestive/alimentary system

abnormal large intestine crypts of Lieberkuhn morphology ( J:27734 )

• crypt of Lieberkuhn distension and mucus hyper-accumulation in the colon in 9/11 animals

abnormal small intestine crypts of Lieberkuhn morphology ( J:27734 )

• dilated crypts of Lieberkuhn in jejunum and ileum with excessive mucus accumulation in 9/11 mutant mice

intestinal obstruction ( J:27734 )

• inspissated meconium obstructions of the small intestine which caused rupture and peritonitis

meconium ileus ( J:27734 )

abnormal intestine physiology ( J:27734 )

• the basal SCC in the mutant colon epithelium is smaller than controls

• forskolin reduced and often reversed the resting SCC value, with responses to forsolin, carbachol and frusemide all significantly different from controls, independent of animal age

peritoneal inflammation ( J:27734 )

immune system

peritoneal inflammation ( J:27734 )

endocrine/exocrine glands

endocrine/exocrine gland phenotype ( J:27734 )

N • no significant differences in mutant pancreas compared with controls

N • no significant differences in mutant lacrymal glands compared with controls

abnormal large intestine crypts of Lieberkuhn morphology ( J:27734 )

• crypt of Lieberkuhn distension and mucus hyper-accumulation in the colon in 9/11 animals

abnormal small intestine crypts of Lieberkuhn morphology ( J:27734 )

• dilated crypts of Lieberkuhn in jejunum and ileum with excessive mucus accumulation in 9/11 mutant mice

respiratory system

respiratory system phenotype ( J:27734 )

N • no pathological changes were seen in mutant lung compared with controls

decreased respiratory epithelial chloride transmembrane transport ( J:27734 )

• basal short circuit current level in the mutant tracheal epithelium is not significantly different from controls

• the amiloride sensitive current in mutant and control tracheas were similar, suggesting normal sodium ion transport

• the forskolin sensitive current in mutant trachea is reduced compared to controls, suggesting a defect in chloride transport; this difference is greater in young animals (18-32 days of age) vs. older animals, where the difference is not significant

• the A23187 sensitive current in mutant in mutant trachea is similar at all ages compared to controls

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cystic fibrosis		DOID:1485	OMIM:219700	J:27734